R7S (p.Arg7Ser) variant of CACNA1C (Q13936)
R7S (p.Arg7Ser) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- rs1386564518
- gnomAD 12-2053583-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.50
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available